I often think about the patients and families I've seen and try to do something more, looking for additional resources, trying to obtain research testing, or involving someone studying the condition who can view my patients from a different perspective.



As a geneticist, I see various conditions and patients of all ages. Genetic conditions are common, although some are individually rare. I'm interested in discovering the cause of rare diseases, including congenital disabilities or anomalies that affect how one grows and develops. The idea is that knowledge about the cause of genetic conditions will one day lead to treatments.

My work in the clinic allows me to evaluate and treat patients. After clinic, I often think about the patients and families I've seen and try to do something more, looking for additional resources, trying to obtain research testing, or involving someone studying the condition who can view my patients from a different perspective.

I became interested in genetics after attending a division seminar for the first time. The talk featured the discovery of a new gene and a novel mechanism for causing disease. I found it incredibly interesting but never dreamed of working in medical genetics as a doctor. However, I was working in an institute that focused on genetics research. One day, while looking for jobs, I saw a position advertised for clinical training in medical genetics. "That's it!" I remember thinking to myself. "That's what I want to do.” I was fortunate enough to get that job and start my career in a growing field of medical care that many find uniquely rewarding.

I'm co-editor of the American Journal of Medical Genetics, a journal focused on medical genetics. I'm also a past Chair of the American Board of Medical Genetics and Genomics.

When I’m not working, I like to be outdoors. Growing up in Australia taught me to love nature.

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TRAPPC9-related neurodevelopmental disorder: Report of a homozygous deletion in TRAPPC9 due to paternal uniparental isodisomy. Penon-Portmann, M; Hodoglugil, U; Arun P, W; Yip, T; Slavotinek, A; Tenney, JL. American Journal of Medical Genetics, Part A. 2022.

Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish. Fasano, G; Muto, V; Radio, FC; Venditti, M; Mosaddeghzadeh, N; Coppola, S; Paradisi, G; Zara, E; Bazgir, F; Ziegler, A; et al. Nature Communications. 2022; 13.

Return of non-ACMG recommended incidental genetic findings to pediatric patients: considerations and opportunities from experiences in genomic sequencing. Bowling, KM; Thompson, ML; Kelly, MA; Scollon, S; Slavotinek, AM; Powell, BC; Kirmse, BM; Hendon, LG; Brothers, KB; Korf, BR; et al. Genome Medicine. 2022; 14.

Utility of genetic work-up for 46, XY patients with severe hypospadias. Srivastava, P; Tenney, J; Lodish, M; Slavotinek, A; Baskin, L. Journal of Pediatric Urology. 2022.

Retinopathy and optic atrophy in a case of COQ2-related primary coenzyme Q10 deficiency. Stallworth, JY; Blair, DR; Slavotinek, A; Moore, AT; Duncan, JL; de Alba Campomanes, AG. Ophthalmic Genetics. 2022; 1-5.

Targeting the Complement-Sphingolipid System in COVID-19 and Gaucher Diseases: Evidence for a New Treatment Strategy. Trivedi, VS; Magnusen, AF; Rani, R; Marsili, L; Slavotinek, AM; Prows, DR; Hopkin, RJ; McKay, MA; Pandey, MK. International Journal of Molecular Sciences. 2022; 23.

Predicting genes from phenotypes using human phenotype ontology (HPO) terms. Slavotinek, A; Prasad, H; Yip, T; Rego, S; Hoban, H; Kvale, M. Human Genetics. 2022; 141:1749-1760.

Cost-effectiveness frameworks for comparing genome and exome sequencing versus conventional diagnostic pathways: A scoping review and recommended methods. Ferket, BS; Baldwin, Z; Murali, P; Pai, A; Mittendorf, KF; Russell, HV; Chen, F; Lynch, FL; Lich, KH; Hindorff, LA; et al. Genetics in Medicine. 2022; 24:2014-2027.

Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency. Riedhammer, KM; Burgemeister, AL; Cantagrel, V; Amiel, J; Siquier-Pernet, K; Boddaert, N; Hertecant, J; Kannouche, PL; Pouvelle, C; Htun, S; et al. Human Molecular Genetics. 2022; 31:3083-3094.

Late-onset Proteus syndrome with cerebriform connective tissue nevus and subsequent development of intraductal papilloma. Modlin, EW; Slavotinek, AM; Darling, TN; Lipkowitz, S; Barr, FG; Munster, PN; Biesecker, LG; Ours, CA. American Journal of Medical Genetics, Part A. 2022; 188:2766-2771.

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